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PubMed1997

Dentato-olivary dysplasia in sibs: an autosomal recessive disorder?

The cases of a brother and sister with dentato-olivary dysplasia are described. Both had severe developmental delay, severe epilepsy of early onset, evolving hypertonic quadriplegia, and death in early childhood. Postmortem examination of the brain in one child showed a particular form of dentato-olivary dysplasia. These children show many features in common with previously described cases of this condition, but this is the first report of occurrence in sibs.

Dentate Gyrus↗
PubMed1985

Child psychiatric sequelae of maternal war stress.

Two cohorts of boys were examined while attending a well-baby clinic and reexamined at the end of the first grade of elementary school. One cohort (n = 57) consisted of boys born in the year of the Six-Day War in 1967. The other cohort was born 2 years later (n = 63). Data on socio-demographic background, early development, behavior at school and at home were obtained from the mothers and the teachers. Statistical analysis showed that the "war children" had significant developmental delays and regressive, non-affiliative and dissocial behavior. The children, who were in their first half year of life at the time of the war, were much more disturbed than those of whom the mothers were pregnant at the time of the war. The findings suggest that a disturbed mother-child relationship existed in the former group.

Child↗
PubMed1999

Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype?

Cyclophosphamide (CP) is an alkylating agent widely used in treating cancer and autoimmune disease. CP is classified as a pregnancy risk factor D drug and is teratogenic in animals, but population studies have not conclusively demonstrated teratogenicity in humans. Six isolated reports of prenatally exposed infants with various congenital anomalies exist, but to date no specific phenotype has been delineated. The purpose of this report is to document a new case of in utero CP exposure with multiple congenital anomalies and to establish an apparent CP embryopathy phenotype. The mother had systemic lupus erythematosus and cyclophosphamide exposure in the first trimester. She also took nifedipine, atenolol, clonidine, prednisone, aspirin, and potassium chloride throughout pregnancy. The infant had growth retardation and multiple anomalies including microbrachycephaly, coronal craniosynostosis, hypotelorism, shallow orbits, proptosis, blepharophimosis, small, abnormal ears, unilateral preauricular pit, broad, flat nasal bridge, microstomia, high-arched palate, micrognathia, preaxial upper limb and postaxial lower limb defects consisting of hypoplastic thumbs, and bilateral absence of the 4th and 5th toes. Chromosomes were apparently normal. The reported cases of in utero exposure to cyclosposphamide shared the following manifestations with our patient: growth deficiency, developmental delay, craniosynostosis, blepharophimosis, flat nasal bridge, abnormal ears, and distal limb defects including hypoplastic thumbs and oligodactyly. We conclude that (a) cyclophosphamide is a human teratogen, (b) a distinct phenotype exists, and (c) the safety of CP in pregnancy is in serious question.

Abnormalities, Multiple↗
PubMed2007

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.

BACKGROUND: A single family has been described in which obesity results from a mutation in the leptin-receptor gene (LEPR), but the prevalence of such mutations in severe, early-onset obesity has not been systematically examined. METHODS: We sequenced LEPR in 300 subjects with hyperphagia and severe early-onset obesity, including 90 probands from consanguineous families, and investigated the extent to which mutations cosegregated with obesity and affected receptor function. We evaluated metabolic, endocrine, and immune function in probands and affected relatives. RESULTS: Of the 300 subjects, 8 (3%) had nonsense or missense LEPR mutations--7 were homozygotes, and 1 was a compound heterozygote. All missense mutations resulted in impaired receptor signaling. Affected subjects were characterized by hyperphagia, severe obesity, alterations in immune function, and delayed puberty due to hypogonadotropic hypogonadism. Serum leptin levels were within the range predicted by the elevated fat mass in these subjects. Their clinical features were less severe than those of subjects with congenital leptin deficiency. CONCLUSIONS: The prevalence of pathogenic LEPR mutations in a cohort of subjects with severe, early-onset obesity was 3%. Circulating levels of leptin were not disproportionately elevated, suggesting that serum leptin cannot be used as a marker for leptin-receptor deficiency. Congenital leptin-receptor deficiency should be considered in the differential diagnosis in any child with hyperphagia and severe obesity in the absence of developmental delay or dysmorphism.

Adult↗
PubMed2001

Autosomal recessive polymicrogyria with infantile spasms and limb deformities.

We describe two siblings, a girl and a boy, aged 4 and 2 years and 10 months respectively, born from non-consanguineous parents,with diffuse polymicrogyria, lower limb deformities, infantile spasms and developmental delay. Spasms had a good outcome under antiepileptic drug treatment. Clinical and imaging features were of identical severity in both siblings. Muscle biopsy,creatine kinase, metabolic investigations and chromosomal analysis were normal. This combination of anatomo-clinical features and their occurrence in siblings of both sexes suggests an autosomal recessive malformation syndrome.

Cerebral Cortex↗
PubMed2005

Infant and child motor development.

Identifying infant and child developmental delay is a skill important for orthopaedic surgeons to master because they often are asked to distinguish between normal and abnormal movement. An emphasis has been placed on early detection and referral for intervention, which has been shown to enhance the lives of the infant or child and his or her family. Appropriate recognition of delay is necessary for referral to early intervention services, which serve to help these children overcome or improve motor dysfunction and to help families grow more confident in caring for children with special needs. We define early intervention, discuss normal and abnormal motor development, and provide useful examination tools to assess motor development.

Age Factors↗
PubMed1989

The value of speech-language assessment in the diagnosis of child abuse.

Language deficits and developmental delays may be helpful clues in the diagnosis of child abuse and neglect. Speech-language assessment of 27 children burned through abuse or neglect identified 22 (81%) with language delays. Other significant trends included a decreased attention span, inappropriate affect, irritability, and withdrawn behavior. We recommend speech-language assessment for all burned children suspected to be victims of abuse or neglect as part of the abuse team investigation and to identify children who may benefit from intervention.

Affect↗
PubMed2006

Cadherin-2 participates in the morphogenesis of the zebrafish inner ear.

Molecular mechanisms that control inner ear morphogenesis from the placode to the three-dimensional functional organ are not well understood. We hypothesize that cell-cell adhesion, mediated by cadherin molecules, contributes significantly to various stages of inner ear formation. Cadherin-2 (Cdh2) function during otic vesicle morphogenesis was investigated by examining morpholino antisense oligonucleotide knockdown and glass onion (glo) (Cdh2 mutant) zebrafish embryos. Placode formation, vesicle cavitation and specification occurred normally, but morphogenesis of the otic vesicle was affected by Cdh2 deficiency: semicircular canals were reduced or absent. Phalloidin staining of the hair cell stereocillia demonstrated that cadherin-2 (cdh2) loss-of-function did not affect hair cell number, but acetylated tubulin labeling showed that hair cell kinocilia were shorter and irregularly shaped. Statoacoustic ganglion size was significantly reduced, which suggested that neuron differentiation or maturation was affected. Furthermore, cdh2 loss-of-function did not cause a general developmental delay, since differentiation of other tissues, including eye, proceeded normally. These findings demonstrate that Cdh2 selectively affects epithelial morphogenetic cell movements, particularly semicircular canal formation, during normal ear mophogenesis.

Animals↗
PubMed1994

Megalocornea, developmental retardation and dysmorphic features: two further patients.

Two unrelated children are described with megalocornea, mild-moderate developmental delay, mild joint laxity and a similar dysmorphic appearance, comprising a bossed forehead, hypertelorism, a saddle-shaped nose and a carp-shaped mouth with prominent lips. Similar abnormalities have been observed in previously reported cases of megalocornea/mental retardation and may help to define one subtype of this heterogeneous group of conditions.

Abnormalities, Multiple↗
PubMed1984

Mortality and follow-up data for neonates weighing 500 to 800 g at birth.

Survival and development of immature premature neonates (birth weight, less than or equal to 800 g) at a single regional center were compared for 2 1/2 years, when such neonates' conditions were considered hopeless, and for the next 4 1/2 years, when aggressive therapy was used. During the first 2 1/2 years, two (4%) of 56 survived, one of whom was profoundly impaired. During the next 4 1/2 years, 65 (44%) of 147 survived. Of 65 survivors, 54 were followed up for at least one year: 43% were normal, 22% had mild developmental delays, and 19 (35%) were impaired. Of the 19 impaired, one was profoundly impaired and four were severely affected. The number of normal survivors and the high level of functioning of most of the impaired survivors suggests intensive care is as appropriate for neonates weighing 800 g or less as for more mature, severely ill newborns

Birth Weight↗
PubMed1985

Familial Sotos syndrome (cerebral gigantism): craniofacial and psychological characteristics.

Most reported cases of Sotos syndrome are sporadic, but autosomal dominant and recessive inheritance patterns have been suggested. Ascertainment of a two-generation family through a 7-year-old proposita with a learning disability allowed the relatively unbiased study of two affected relatives. Developmental delay was not pronounced in the patient's mother or sister; craniofacial characteristics at variance with the characteristic description included acrocephaly and maxillary prominence. Steepness of the anterior cranial base angle and protrusion of the middle and lower face, shown in all three patients by cephalometric radiographs, deserve further evaluation as diagnostic criteria.

Adult↗
PubMed1984

Associated neurologic abnormalities in congenital third nerve palsies.

A study of ten patients (six girls and four boys ranging in age from 17 months to 9 1/2 years) with congenital third nerve palsies showed that not all cases are benign without other signs of focal neurologic damage. Six of the ten children showed some degree of pupillary involvement, five had signs of oculomotor synkinesis, four had associated focal neurologic abnormalities, and two had generalized developmental delay. Only three children showed no signs of neurologic change except the third nerve palsy. Although congenital third nerve palsies are incompletely understood, these lesions probably occur as a result of the damage both to the peripheral nerve and to the brain stem itself. Signs of oculomotor synkinesis do not occur in all cases and the pupil is frequently spared.

Brain Stem↗
PubMedDate not supplied

Poorly coordinated children: a survey of 95 cases.

Screening of 717 5-year-olds and 757 7-year-olds, found 55 of the former and 77 of the latter possibly to be poorly coordinated. Further diagnostic testing with the McCarthy Motor Scales confirmed the problem in a total of 95 children, a prevalence of 6.4%. Neurological examination showed 43% of the 5-year-olds and 21% of the 7-year-olds to have choreiform movements. Of the total 95, proprioception was abnormal in 40%, but abnormal muscle tone present in only 4%. An increased prevalence of hearing loss and obesity and a history of developmental delays was found. Low birth weights, prematurity, post-maturity and perinatal problems were significantly associated with poor coordination. Socioeconomic status was not a significant factor. The difficulties of testing and measuring poor coordination and the need for more precise measures are discussed. Follow-up of at risk children at age 5 with tests of motor coordination is recommended.

Child↗
PubMedDate not supplied

Working with families of children with special needs: the parent adviser scheme.

This paper describes a project in which an attempt is made to provide regular, ongoing support and counselling for families of children with severe developmental delays and intellectual or physical impairments. This service is available to both English speaking and Bangladeshi families, and is concerned with the needs of the whole family, not just the child. Professionals already working in this field are trained in counselling skills and then work in partnership with the families, attempting to develop a respectful, open relationship based upon active listening.

Bangladesh↗
PubMed1994

Early intervention: the professional views and referral practices of paediatricians in Victoria.

Early intervention services for young children with developmental disabilities have developed considerably in the past decade, yet little information is available about the referral practices and views of Australian paediatricians. During 1991, 100 paediatricians in Victoria completed a postal questionnaire designed to gain information regarding their attitudes to early intervention and referral practices. The results indicated that paediatricians had a positive view of early intervention, and perceived the standard and quality of the services in their region as comprehensive (16%) or adequate (54%). They were likely to make prompt referrals in the presence of an established disability (75%), but with suspected developmental delay, many (45%) were likely to wait until the delay was confirmed. Referrals were more often made for intervention for the child rather than for family support. However, paediatricians felt that early intervention had a beneficial effect on family functioning (81%). In general, the results indicate that there seem to be few barriers between paediatricians and the early intervention field.

Attitude of Health Personnel↗
PubMed1986

Benzyl alcohol toxicity: impact on neurologic handicaps among surviving very low birth weight infants.

Benzyl alcohol preservative in solutions used to flush intravascular catheters has been linked with increased mortality and incidence of intraventricular hemorrhage in small preterm infants. This study evaluated the outcome of surviving very low birth weight infants exposed to benzyl alcohol while in our neonatal intensive care unit. Surviving infants, less than 1,250 g birth weight, admitted during the 12 months prior to discontinuation of benzyl alcohol (period I), were compared with those infants admitted during the 12 months after discontinuation of benzyl alcohol (period II). Survivors were enrolled in a follow-up program. Results of the study demonstrated that infants from period II had fewer neurologic handicaps. The incidence of cerebral palsy decreased from 50% to 2.4% (P less than .001), and the presence of cerebral palsy and developmental delay combined decreased from 53.9% to 11.9% (P less than .001). Several factors other than benzyl alcohol exposure were examined for their importance on outcome but were found not to be related to it. It is concluded that the dramatic improvement in outcome could be the result of discontinuation of benzyl alcohol.

Benzyl Alcohols↗
PubMedDate not supplied

[Neonatal, neurologic and psychosocial findings in higher order multiple births. Follow-up for 3 to 10 years].

We examined the outcome of 9 triplet, 3 quadruplet, 1 quintuplet and 1 sixtuplet pregnancies delivered between 1979-1989 at the perinatal center of the RWTH Aachen. The course of pregnancy and neonatal period were retrospectively analysed. The follow-up program covered at least 3, up to a maximum of 10 years. 12 families could be interviewed concerning psychosocial effects. The neonatal mortality was 4%. Neonatal morbidity; hyaline membrane disease (n = 18), intraventricular hemorrhage (n = 9), pneumothorax (n = 7), patent ductus arteriosus (n = 7), bronchopulmonary dysplasia (n = 8). At the age of 2 years 63% of the children were considered to be normal on developmental assessment, 17% showed mild, 20% severe developmental delay. With 3 to 10 years 83% were normal, 17% severely handicapped. In total 20% of the children died or showed severe handicap. Higher order multiple pregnancies make great demands on the perinatal medicine and lead in spite of an improved prognosis to a remaining burden for the children and their parents.

Brain Damage, Chronic↗
PubMed2006

Corneal lesion as the initial manifestation of tyrosinemia type II.

Tyrosinemia type II (Richner-Hanhart syndrome) is a rare autosomal recessive disease with deficiency of tyrosine aminotransferase and subsequently increasing level of serum tyrosine. We report the case of a 2-year-old girl who was referred due to bilateral corneal lesions. Slit-lamp examination showed small granular white deposits arranged in a dendritic pattern in the superficial central cornea of both eyes. Physical examination revealed painful, non-pruritic, hyperkeratotic plaques on the soles, palms and fingertips. Mental evaluation demonstrated developmental delay for her age. Blood examination revealed serum tyrosine level to be 1868 microM (normal range, 30-110 microM), which decreased to 838 microM with 2-month diet on tyrosine and phenylalanine restriction. The corneal and skin lesions resolved completely. However, the corneal deposits recurred a month later as her mother failed to strictly control the diet because the little girl was losing weight and activity. With specific formula and adjusted diet regimen, the corneal lesions decreased again. Corneal pseudodendritic deposits may be the initial manifestation in patients with tyrosinemia type II. Early diagnosis and intervention with diet control are crucial for preventing permanent visual and developmental deficits. Corneal deposits can be one of the parameters in monitoring the efficacy of diet control.

Child, Preschool↗